HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612740G>T , CM000679.2:g.41612740G>T | GRCh38 |
NC_000017.10:g.39768992G>T , CM000679.1:g.39768992G>T | GRCh37 |
NC_000017.9:g.37022518G>T | NCBI36 |
NG_008301.1:g.5088C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.-52C>A MANE Select | ENSP00000301653.3:n.-52C>A | |
ENST00000301653.8:c.-52C>A | ENSP00000301653.3:n.-52C>A | |
ENST00000588319.1:n.26C>A | ||
ENST00000590990.1:c.-36-16C>A | ENSP00000467105.1:n.-36-16C>A | |
ENST00000593067.1:c.-313+50C>A | ENSP00000467124.1:n.-313+50C>A | |
NM_005557.3:c.-52C>A | NP_005548.2:n.-52C>A | |
NM_005557.4:c.-52C>A MANE Select | NP_005548.2:n.-52C>A |